| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48794162T>C | CA345948 | GATA1 | c.991T>C (p.Ter331Arg) c.1255T>C (p.Ter419Arg) c.1006T>C (p.Ter336Arg) c.1030T>C (p.Ter344Arg) c.1240T>C (p.Ter414Arg) c.899T>C (p.Met300Thr) | ClinVar dbSNP |
| X | g.48794162T= | CA2428391218 | GATA1 | c.991T= (p.Ter331=) c.1255T= (p.Ter419=) c.1006T= (p.Ter336=) c.1030T= (p.Ter344=) c.1240T= (p.Ter414=) c.899T= (p.Met300=) | dbSNP |